| 15176877 | CV706859 | single nucleotide variant | NM_000655.5(SELL):c.66G>T (p.Gly22=) | not provided [RCV000973290] | benign | 1 | 169710455 | 169710455 | Human | | name |
| 598212159 | CV3903919 | single nucleotide variant | NM_000655.5(SELL):c.98A>G (p.His33Arg) | not specified [RCV005270927] | uncertain significance | 1 | 169708791 | 169708791 | Human | | name |
| 15172281 | CV706858 | single nucleotide variant | NM_000655.5(SELL):c.351T>C (p.Gly117=) | not provided [RCV000972370] | benign | 1 | 169708538 | 169708538 | Human | | name |
| 156108353 | CV2254410 | single nucleotide variant | NM_000655.5(SELL):c.283G>A (p.Gly95Arg) | not specified [RCV004123795] | uncertain significance | 1 | 169708606 | 169708606 | Human | | name |
| 156277934 | CV2330877 | single nucleotide variant | NM_000655.5(SELL):c.173G>A (p.Arg58Gln) | not specified [RCV004185932] | likely benign | 1 | 169708716 | 169708716 | Human | | name |
| 407477538 | CV3476856 | single nucleotide variant | NM_000655.5(SELL):c.250C>T (p.Arg84Cys) | not specified [RCV004663747] | uncertain significance | 1 | 169708639 | 169708639 | Human | | name |
| 597735835 | CV3601882 | single nucleotide variant | NM_000655.5(SELL):c.151C>A (p.Gln51Lys) | not specified [RCV004863727] | uncertain significance | 1 | 169708738 | 169708738 | Human | | name |
| 598212155 | CV3903918 | single nucleotide variant | NM_000655.5(SELL):c.178A>G (p.Asn60Asp) | not specified [RCV005270926] | uncertain significance | 1 | 169708711 | 169708711 | Human | | name |
| 15182224 | CV718375 | single nucleotide variant | NM_000655.5(SELL):c.107C>G (p.Thr36Ser) | not provided [RCV000885942] | benign | 1 | 169708782 | 169708782 | Human | | name |
| 155985766 | CV2233920 | single nucleotide variant | NM_000655.5(SELL):c.578T>A (p.Phe193Tyr) | not specified [RCV004104273] | uncertain significance | 1 | 169707344 | 169707344 | Human | | name |
| 156082513 | CV2249133 | single nucleotide variant | NM_000655.5(SELL):c.565C>T (p.Pro189Ser) | not specified [RCV004118187] | uncertain significance | 1 | 169707357 | 169707357 | Human | | name |
| 156283169 | CV2291798 | single nucleotide variant | NM_000655.5(SELL):c.886A>C (p.Ile296Leu) | not specified [RCV004158334] | uncertain significance | 1 | 169703321 | 169703321 | Human | | name |
| 155963169 | CV2308243 | single nucleotide variant | NM_000655.5(SELL):c.697T>A (p.Leu233Ile) | not specified [RCV004164741] | uncertain significance | 1 | 169704637 | 169704637 | Human | | name |
| 401884717 | CV2755994 | single nucleotide variant | NM_000655.5(SELL):c.508G>C (p.Glu170Gln) | not specified [RCV004336075] | uncertain significance | 1 | 169707414 | 169707414 | Human | | name |
| 405726688 | CV3321131 | single nucleotide variant | NM_000655.5(SELL):c.973A>G (p.Met325Val) | not specified [RCV004450502] | uncertain significance | 1 | 169701668 | 169701668 | Human | | name |
| 405726695 | CV3321132 | single nucleotide variant | NM_000655.5(SELL):c.551T>C (p.Val184Ala) | not specified [RCV004450503] | uncertain significance | 1 | 169707371 | 169707371 | Human | | name |
| 405726702 | CV3321133 | single nucleotide variant | NM_000655.5(SELL):c.648C>G (p.Asn216Lys) | not specified [RCV004450504] | uncertain significance | 1 | 169704686 | 169704686 | Human | | name |
| 405726710 | CV3321134 | single nucleotide variant | NM_000655.5(SELL):c.731T>C (p.Phe244Ser) | not specified [RCV004450505] | uncertain significance | 1 | 169704603 | 169704603 | Human | | name |
| 405726718 | CV3321135 | single nucleotide variant | NM_000655.5(SELL):c.785T>C (p.Leu262Pro) | not specified [RCV004450506] | uncertain significance | 1 | 169703422 | 169703422 | Human | | name |
| 405726729 | CV3321136 | single nucleotide variant | NM_000655.5(SELL):c.960C>A (p.Asp320Glu) | not specified [RCV004450507] | uncertain significance | 1 | 169701681 | 169701681 | Human | | name |
| 407492249 | CV3476855 | single nucleotide variant | NM_000655.5(SELL):c.494G>A (p.Cys165Tyr) | not specified [RCV004667063] | uncertain significance | 1 | 169707428 | 169707428 | Human | | name |
| 597735795 | CV3601874 | single nucleotide variant | NM_000655.5(SELL):c.325G>A (p.Glu109Lys) | not specified [RCV004863720] | likely benign | 1 | 169708564 | 169708564 | Human | | name |
| 597735808 | CV3601877 | single nucleotide variant | NM_000655.5(SELL):c.820C>T (p.His274Tyr) | not specified [RCV004863722] | uncertain significance | 1 | 169703387 | 169703387 | Human | | name |
| 597735814 | CV3601878 | single nucleotide variant | NM_000655.5(SELL):c.301G>T (p.Val101Leu) | not specified [RCV004863723] | uncertain significance | 1 | 169708588 | 169708588 | Human | | name |
| 597735820 | CV3601879 | single nucleotide variant | NM_000655.5(SELL):c.773A>G (p.Gln258Arg) | not specified [RCV004863724] | uncertain significance | 1 | 169703434 | 169703434 | Human | | name |
| 597735826 | CV3601880 | single nucleotide variant | NM_000655.5(SELL):c.536C>T (p.Thr179Ile) | not specified [RCV004863725] | uncertain significance | 1 | 169707386 | 169707386 | Human | | name |
| 597735830 | CV3601881 | single nucleotide variant | NM_000655.5(SELL):c.857C>A (p.Thr286Asn) | not specified [RCV004863726] | uncertain significance | 1 | 169703350 | 169703350 | Human | | name |
| 598212147 | CV3903917 | single nucleotide variant | NM_000655.5(SELL):c.354G>C (p.Glu118Asp) | not specified [RCV005270925] | uncertain significance | 1 | 169708535 | 169708535 | Human | | name |
| 598212168 | CV3903920 | single nucleotide variant | NM_000655.5(SELL):c.775T>C (p.Cys259Arg) | not specified [RCV005270928] | uncertain significance | 1 | 169703432 | 169703432 | Human | | name |
| 598212173 | CV3903921 | single nucleotide variant | NM_000655.5(SELL):c.986G>A (p.Gly329Asp) | not specified [RCV005270929] | uncertain significance | 1 | 169701655 | 169701655 | Human | | name |
| 15131606 | CV731859 | single nucleotide variant | NM_000655.5(SELL):c.601G>C (p.Glu201Gln) | not provided [RCV000897804] | benign | 1 | 169704733 | 169704733 | Human | | name |
| 156247165 | CV2202843 | single nucleotide variant | NM_000655.5(SELL):c.1070G>T (p.Arg357Ile) | not specified [RCV004073694] | uncertain significance | 1 | 169701571 | 169701571 | Human | | name |
| 597735801 | CV3601876 | single nucleotide variant | NM_000655.5(SELL):c.1102A>G (p.Met368Val) | not specified [RCV004863721] | uncertain significance | 1 | 169691801 | 169691801 | Human | | name |
| 150453006 | CV1203711 | single nucleotide variant | NM_033343.4(LHX4):c.464C>T (p.Ala155Val) | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV001591667] | uncertain significance | 1 | 180271392 | 180271392 | Human | 1 | trait , alternate_id |
| 152979618 | CV1675666 | single nucleotide variant | NM_033343.4(LHX4):c.1022T>C (p.Ile341Thr) | Inborn genetic diseases [RCV003101316]|Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV002244256] | uncertain significance | 1 | 180274428 | 180274428 | Human | 2 | trait , alternate_id |
| 152999230 | CV1679675 | single nucleotide variant | NM_033343.4(LHX4):c.621C>G (p.Asn207Lys) | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV002251064] | uncertain significance | 1 | 180271849 | 180271849 | Human | 1 | trait , alternate_id |
| 155268329 | CV1701744 | single nucleotide variant | NM_033343.4(LHX4):c.569T>C (p.Leu190Pro) | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV002283974] | uncertain significance | 1 | 180271497 | 180271497 | Human | 1 | trait , alternate_id |
| 155644343 | CV1708618 | single nucleotide variant | NM_033343.4(LHX4):c.822T>A (p.Tyr274Ter) | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV002291151] | uncertain significance | 1 | 180274228 | 180274228 | Human | 1 | trait , alternate_id |
| 10042522 | CV187106 | single nucleotide variant | NM_033343.4(LHX4):c.452-2A>C | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000169664] | pathogenic | 1 | 180271378 | 180271378 | Human | 1 | trait , alternate_id |
| 8559965 | CV22545 | single nucleotide variant | NM_033343.4(LHX4):c.607-1G>C | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000007935] | pathogenic | 1 | 180271834 | 180271834 | Human | 1 | trait , alternate_id |
| 8597544 | CV22546 | single nucleotide variant | NM_033343.4(LHX4):c.628G>C (p.Ala210Pro) | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000007936] | pathogenic | 1 | 180271856 | 180271856 | Human | 1 | trait , alternate_id |
| 8597545 | CV22547 | single nucleotide variant | NM_033343.4(LHX4):c.250C>T (p.Arg84Cys) | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000007937]|not provided [RCV005243097] | pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity | 1 | 180266393 | 180266393 | Human | 1 | trait , alternate_id |
| 8597546 | CV22548 | single nucleotide variant | NM_033343.4(LHX4):c.569T>G (p.Leu190Arg) | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000007938] | pathogenic | 1 | 180271497 | 180271497 | Human | 1 | trait , alternate_id |
| 8597547 | CV22549 | single nucleotide variant | NM_033343.4(LHX4):c.1162C>A (p.Pro388Thr) | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000007939] | pathogenic | 1 | 180274568 | 180274568 | Human | 1 | trait , alternate_id |
| 243058577 | CV2413062 | single nucleotide variant | NM_033343.4(LHX4):c.1087A>T (p.Ile363Phe) | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV003134054] | uncertain significance | 1 | 180274493 | 180274493 | Human | 1 | trait , alternate_id |
| 243054134 | CV2413063 | single nucleotide variant | NM_033343.4(LHX4):c.1070G>A (p.Gly357Glu) | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV003131472] | uncertain significance | 1 | 180274476 | 180274476 | Human | 1 | trait , alternate_id |
| 243054136 | CV2413064 | deletion | NM_033343.4(LHX4):c.37_39del (p.Val13del) | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV003131473] | uncertain significance | 1 | 180230566 | 180230568 | Human | 1 | trait , alternate_id |
| 11546532 | CV249570 | single nucleotide variant | NM_033343.4(LHX4):c.450C>T (p.Asn150=) | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000341510]|not provided [RCV001573015]|not specified [RCV000246585] | benign|likely benign | 1 | 180266593 | 180266593 | Human | 1 | trait , alternate_id |
| 11548912 | CV249571 | single nucleotide variant | NM_033343.4(LHX4):c.778+14G>T | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000308148]|not provided [RCV001668596]|not specified [RCV000249713] | benign|likely benign | 1 | 180272020 | 180272020 | Human | 1 | trait , alternate_id |
| 11543311 | CV249572 | single nucleotide variant | NM_033343.4(LHX4):c.983A>G (p.Asn328Ser) | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000612505]|not provided [RCV002058380]|not specified [RCV000242291] | benign | 1 | 180274389 | 180274389 | Human | 1 | trait , alternate_id |
| 401724119 | CV2737982 | single nucleotide variant | NM_033343.4(LHX4):c.451G>C (p.Asp151His) | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV003315154] | uncertain significance | 1 | 180266594 | 180266594 | Human | 1 | trait , alternate_id |
| 11591387 | CV277487 | single nucleotide variant | NM_033343.4(LHX4):c.-172A>G | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000328399] | uncertain significance | 1 | 180230358 | 180230358 | Human | 1 | trait , alternate_id |
| 11583820 | CV277488 | single nucleotide variant | NM_033343.4(LHX4):c.-121T>G | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000269567] | uncertain significance | 1 | 180230409 | 180230409 | Human | 1 | trait , alternate_id |
| 11591975 | CV277490 | single nucleotide variant | NM_033343.4(LHX4):c.-120C>T | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000333982]|not provided [RCV004713542] | benign|likely benign | 1 | 180230410 | 180230410 | Human | 1 | trait , alternate_id |
| 11655961 | CV277495 | single nucleotide variant | NM_033343.4(LHX4):c.83C>T (p.Pro28Leu) | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000329695] | uncertain significance | 1 | 180248291 | 180248291 | Human | 1 | trait , alternate_id |
| 11582933 | CV277502 | single nucleotide variant | NM_033343.4(LHX4):c.*17C>A | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000263250]|not provided [RCV004713543] | benign|likely benign | 1 | 180274596 | 180274596 | Human | 1 | trait , alternate_id |
| 11595679 | CV277503 | single nucleotide variant | NM_033343.4(LHX4):c.*28C>A | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000373127] | uncertain significance | 1 | 180274607 | 180274607 | Human | 1 | trait , alternate_id |
| 11580502 | CV277679 | single nucleotide variant | NM_033343.4(LHX4):c.248+13G>A | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000335477] | uncertain significance | 1 | 180248469 | 180248469 | Human | 1 | trait , alternate_id |
| 11662969 | CV277680 | single nucleotide variant | NM_033343.4(LHX4):c.451+15C>T | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000390887] | uncertain significance | 1 | 180266609 | 180266609 | Human | 1 | trait , alternate_id |
| 11590349 | CV277690 | single nucleotide variant | NM_033343.4(LHX4):c.*26C>T | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000318378]|not provided [RCV004710736] | likely benign | 1 | 180274605 | 180274605 | Human | 1 | trait , alternate_id |
| 11582438 | CV277697 | single nucleotide variant | NM_033343.4(LHX4):c.*91C>T | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000259778] | uncertain significance | 1 | 180274670 | 180274670 | Human | 1 | trait , alternate_id |
| 11592505 | CV277699 | single nucleotide variant | NM_033343.4(LHX4):c.*286G>C | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000339394] | benign|likely benign | 1 | 180274865 | 180274865 | Human | 1 | trait , alternate_id |
| 11594911 | CV278575 | single nucleotide variant | NM_033343.4(LHX4):c.-134G>C | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000364366] | uncertain significance | 1 | 180230396 | 180230396 | Human | 1 | trait , alternate_id |
| 11581936 | CV278576 | single nucleotide variant | NM_033343.4(LHX4):c.384C>T (p.Asp128=) | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000390880]|not provided [RCV000949469] | benign|likely benign | 1 | 180266527 | 180266527 | Human | 1 | trait , alternate_id |
| 11579364 | CV278580 | single nucleotide variant | NM_033343.4(LHX4):c.452-5T>C | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000301831]|not provided [RCV001610798] | benign|likely benign | 1 | 180271375 | 180271375 | Human | 1 | trait , alternate_id |
| 11581339 | CV278584 | single nucleotide variant | NM_033343.4(LHX4):c.774C>T (p.Phe258=) | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000365899] | likely benign|uncertain significance | 1 | 180272002 | 180272002 | Human | 1 | trait , alternate_id |
| 11578249 | CV278585 | single nucleotide variant | NM_033343.4(LHX4):c.924T>C (p.Tyr308=) | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000277583]|not provided [RCV000889282] | benign|likely benign | 1 | 180274330 | 180274330 | Human | 1 | trait , alternate_id |
| 11581408 | CV278594 | single nucleotide variant | NM_033343.4(LHX4):c.998C>T (p.Thr333Met) | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000368558] | uncertain significance | 1 | 180274404 | 180274404 | Human | 1 | trait , alternate_id |
| 11581884 | CV278598 | single nucleotide variant | NM_033343.4(LHX4):c.37G>A (p.Val13Ile) | Inborn genetic diseases [RCV002519414]|Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000388589]|not provided [RCV000519736]|not specified [RCV003323499] | likely benign|uncertain significance | 1 | 180230566 | 180230566 | Human | 2 | trait , alternate_id |
| 11596111 | CV278605 | single nucleotide variant | NM_033343.4(LHX4):c.*119T>C | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000378688] | benign|likely benign | 1 | 180274698 | 180274698 | Human | 1 | trait , alternate_id |
| 11579038 | CV278612 | single nucleotide variant | NM_033343.4(LHX4):c.63T>C (p.Gly21=) | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000294334]|not provided [RCV001675775] | benign|likely benign | 1 | 180230592 | 180230592 | Human | 1 | trait , alternate_id |
| 11578400 | CV278613 | single nucleotide variant | NM_033343.4(LHX4):c.146A>G (p.His49Arg) | Inborn genetic diseases [RCV003338567]|Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000280375]|not provided [RCV002522073] | likely benign|uncertain significance | 1 | 180248354 | 180248354 | Human | 2 | trait , alternate_id |
| 11578659 | CV278625 | single nucleotide variant | NM_033343.4(LHX4):c.398T>C (p.Met133Thr) | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000286391] | likely benign|uncertain significance | 1 | 180266541 | 180266541 | Human | 1 | trait , alternate_id |
| 11582258 | CV278626 | single nucleotide variant | NM_033343.4(LHX4):c.775C>G (p.Arg259Gly) | Inborn genetic diseases [RCV004984785]|Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000404698] | uncertain significance | 1 | 180272003 | 180272003 | Human | 2 | trait , alternate_id |
| 11590937 | CV278627 | single nucleotide variant | NM_033343.4(LHX4):c.*97T>G | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000324066] | benign|likely benign | 1 | 180274676 | 180274676 | Human | 1 | trait , alternate_id |
| 11585968 | CV278631 | single nucleotide variant | NM_033343.4(LHX4):c.*130C>T | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000284392] | benign|likely benign | 1 | 180274709 | 180274709 | Human | 1 | trait , alternate_id |
| 11596609 | CV278659 | single nucleotide variant | NM_033343.4(LHX4):c.*289G>A | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000384254] | uncertain significance | 1 | 180274868 | 180274868 | Human | 1 | trait , alternate_id |
| 11586695 | CV278662 | single nucleotide variant | NM_033343.4(LHX4):c.*445G>T | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000289883] | benign|likely benign | 1 | 180275024 | 180275024 | Human | 1 | trait , alternate_id |
| 401918765 | CV2794558 | single nucleotide variant | NM_033343.4(LHX4):c.743A>T (p.Asp248Val) | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV003388236] | uncertain significance | 1 | 180271971 | 180271971 | Human | 1 | trait , alternate_id |
| 401918628 | CV2794602 | single nucleotide variant | NM_033343.4(LHX4):c.364C>T (p.Arg122Trp) | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV003388280] | uncertain significance | 1 | 180266507 | 180266507 | Human | 1 | trait , alternate_id |
| 8559966 | CV33483 | duplication | NM_033343.4(LHX4):c.293dup (p.Thr99fs) | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000007940] | pathogenic | 1 | 180266430 | 180266431 | Human | 1 | trait , alternate_id |
| 405855161 | CV3395759 | single nucleotide variant | NM_033343.4(LHX4):c.689G>A (p.Ser230Asn) | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV004556022] | uncertain significance | 1 | 180271917 | 180271917 | Human | 1 | trait , alternate_id |
| 405869483 | CV3396759 | single nucleotide variant | NM_033343.4(LHX4):c.694A>G (p.Lys232Glu) | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV004566638] | uncertain significance | 1 | 180271922 | 180271922 | Human | 1 | trait , alternate_id |
| 597702983 | CV3714014 | single nucleotide variant | NM_033343.4(LHX4):c.601G>A (p.Val201Ile) | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV005008961] | uncertain significance | 1 | 180271529 | 180271529 | Human | 1 | trait , alternate_id |
| 13442654 | CV434564 | single nucleotide variant | NM_033343.4(LHX4):c.1052C>T (p.Thr351Met) | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000509129]|not provided [RCV002524942] | uncertain significance|not provided | 1 | 180274458 | 180274458 | Human | 1 | trait , alternate_id |
| 13511218 | CV485693 | single nucleotide variant | NM_033343.4(LHX4):c.740A>T (p.Glu247Val) | Inborn genetic diseases [RCV004024647]|Pituitary hormone deficiency, combined, 1 [RCV000582035]|Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV003129930] | uncertain significance | 1 | 180271968 | 180271968 | Human | 3 | trait , alternate_id |
| 15112174 | CV718419 | single nucleotide variant | NM_033343.4(LHX4):c.690C>T (p.Ser230=) | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV002495412]|not provided [RCV000894416] | benign|likely benign | 1 | 180271918 | 180271918 | Human | 1 | trait , alternate_id |
| 21070517 | CV789888 | single nucleotide variant | NM_033343.4(LHX4):c.608T>G (p.Val203Gly) | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000986467] | likely benign | 1 | 180271836 | 180271836 | Human | 1 | trait , alternate_id |
| 21070519 | CV789889 | single nucleotide variant | NM_033343.4(LHX4):c.704G>A (p.Arg235Gln) | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000986468]|not provided [RCV002550597] | likely benign|uncertain significance | 1 | 180271932 | 180271932 | Human | 1 | trait , alternate_id |
| 21070520 | CV789890 | single nucleotide variant | NM_033343.4(LHX4):c.776G>A (p.Arg259Gln) | Inborn genetic diseases [RCV002549668]|LHX4-related disorder [RCV003411927]|Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV000986469] | likely benign|uncertain significance | 1 | 180272004 | 180272004 | Human | 2 | trait , alternate_id |
| 28885089 | CV862853 | single nucleotide variant | NM_033343.4(LHX4):c.-221G>A | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV001098019] | uncertain significance | 1 | 180230309 | 180230309 | Human | 1 | trait , alternate_id |
| 28890405 | CV862854 | single nucleotide variant | NM_033343.4(LHX4):c.90C>T (p.Cys30=) | LHX4-related disorder [RCV003906190]|Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV001099796]|not provided [RCV002069680] | benign|likely benign | 1 | 180248298 | 180248298 | Human | 1 | trait , alternate_id |
| 28895381 | CV862855 | single nucleotide variant | NM_033343.4(LHX4):c.223G>A (p.Val75Ile) | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV001101786] | likely benign | 1 | 180248431 | 180248431 | Human | 1 | trait , alternate_id |
| 28895385 | CV862856 | single nucleotide variant | NM_033343.4(LHX4):c.269C>G (p.Thr90Arg) | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV001101787] | uncertain significance | 1 | 180266412 | 180266412 | Human | 1 | trait , alternate_id |
| 28895388 | CV862857 | single nucleotide variant | NM_033343.4(LHX4):c.378G>A (p.Thr126=) | LHX4-related disorder [RCV003973065]|Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV001101788]|not provided [RCV002556046] | likely benign|uncertain significance | 1 | 180266521 | 180266521 | Human | 1 | trait , alternate_id |
| 28879896 | CV862858 | single nucleotide variant | NM_033343.4(LHX4):c.486C>A (p.Thr162=) | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV001096368] | uncertain significance | 1 | 180271414 | 180271414 | Human | 1 | trait , alternate_id |
| 28879900 | CV862859 | single nucleotide variant | NM_033343.4(LHX4):c.849A>C (p.Gly283=) | LHX4-related disorder [RCV003928695]|Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV001096369]|not provided [RCV002067738] | benign|likely benign | 1 | 180274255 | 180274255 | Human | 1 | trait , alternate_id |
| 28885352 | CV862860 | single nucleotide variant | NM_033343.4(LHX4):c.1007G>A (p.Ser336Asn) | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV001098109] | uncertain significance | 1 | 180274413 | 180274413 | Human | 1 | trait , alternate_id |
| 28885355 | CV862861 | single nucleotide variant | NM_033343.4(LHX4):c.1160A>C (p.His387Pro) | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV001098110]|not provided [RCV002069655]|not specified [RCV005408694] | benign|likely benign | 1 | 180274566 | 180274566 | Human | 1 | trait , alternate_id |
| 28885360 | CV862862 | single nucleotide variant | NM_033343.4(LHX4):c.1165C>A (p.Pro389Thr) | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV001098111]|not provided [RCV002554918]|not specified [RCV002249686] | benign | 1 | 180274571 | 180274571 | Human | 1 | trait , alternate_id |
| 28885362 | CV862863 | single nucleotide variant | NM_033343.4(LHX4):c.*8T>C | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV001098112] | uncertain significance | 1 | 180274587 | 180274587 | Human | 1 | trait , alternate_id |
| 28885367 | CV862864 | single nucleotide variant | NM_033343.4(LHX4):c.*17C>T | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV001098113] | uncertain significance | 1 | 180274596 | 180274596 | Human | 1 | trait , alternate_id |
| 28890670 | CV862865 | single nucleotide variant | NM_033343.4(LHX4):c.*154A>G | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV001099894] | uncertain significance | 1 | 180274733 | 180274733 | Human | 1 | trait , alternate_id |
| 28890675 | CV862866 | single nucleotide variant | NM_033343.4(LHX4):c.*221G>T | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV001099895] | uncertain significance | 1 | 180274800 | 180274800 | Human | 1 | trait , alternate_id |
| 28895646 | CV862867 | single nucleotide variant | NM_033343.4(LHX4):c.*280T>C | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV001101900] | uncertain significance | 1 | 180274859 | 180274859 | Human | 1 | trait , alternate_id |
| 28895649 | CV862868 | single nucleotide variant | NM_033343.4(LHX4):c.*460G>C | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV001101901] | uncertain significance | 1 | 180275039 | 180275039 | Human | 1 | trait , alternate_id |
| 38598043 | CV905022 | deletion | NM_000264.5(PTCH1):c.4148del (p.Pro1383fs) | sellar metastasis from primary bronchial carcinoid tumor [RCV001251068] | uncertain significance | 9 | 95447108 | 95447108 | Human | | trait |
| 38598048 | CV905023 | single nucleotide variant | NM_012465.4(TLL2):c.923+1G>T | sellar metastasis from primary bronchial carcinoid tumor [RCV001251071] | uncertain significance | 10 | 96420955 | 96420955 | Human | | trait |
| 38598042 | CV905024 | single nucleotide variant | NM_078471.4(MYO18A):c.1674G>T (p.Gln558His) | sellar metastasis from primary bronchial carcinoid tumor [RCV001251067] | uncertain significance | 17 | 29120670 | 29120670 | Human | | trait |
| 38598049 | CV905025 | single nucleotide variant | NM_000088.4(COL1A1):c.2902G>T (p.Gly968Ter) | sellar metastasis from primary bronchial carcinoid tumor [RCV001251072] | uncertain significance | 17 | 50189203 | 50189203 | Human | | trait |
| 38598045 | CV905026 | single nucleotide variant | NM_001123385.2(BCOR):c.2572G>T (p.Glu858Ter) | sellar metastasis from primary bronchial carcinoid tumor [RCV001251069] | uncertain significance | X | 40072774 | 40072774 | Human | | trait |
| 38598050 | CV905027 | single nucleotide variant | NM_002844.4(PTPRK):c.1796A>G (p.Tyr599Cys) | sellar metastasis from primary bronchial carcinoid tumor [RCV001251073] | uncertain significance | 6 | 128078900 | 128078900 | Human | | trait |
| 38598046 | CV905028 | single nucleotide variant | NM_053277.3(CLIC6):c.641G>T (p.Gly214Val) | sellar metastasis from primary bronchial carcinoid tumor [RCV001251070] | uncertain significance | 21 | 34670029 | 34670029 | Human | | trait |
| 38462993 | CV918581 | single nucleotide variant | NM_033343.4(LHX4):c.90C>G (p.Cys30Trp) | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV001198172] | uncertain significance | 1 | 180248298 | 180248298 | Human | 1 | trait , alternate_id |
| 38597858 | CV964136 | single nucleotide variant | NM_033343.4(LHX4):c.602T>C (p.Val201Ala) | Short stature-pituitary and cerebellar defects-small sella turcica syndrome [RCV001253228] | uncertain significance | 1 | 180271530 | 180271530 | Human | 1 | trait , alternate_id |
